New tools to determine copy number variations raise questions about reproducibility

Copy number variations (CNVs) - large segments of DNA that have been duplicated or deleted - play a role in disease susceptibility and drug response. New tools exist that examine the prevalence of CNVs in the protein-coding part of the genome, but their accuracy remains unknown. A new study from NHGRI investigators looks at the reproducibility of the results from the most current tools and finds that further improvements are necessary. The research was published in the August 8 edition ofGenome Medicine.

Source: NHGRI Homepage Highlights - August 9, 2016 Category: Genetics & Stem Cells Source Type: news